I write as an outlet, as two of our children battle cancer, positive for Li-Fraumeni Syndrome. I cannot say how often I have heard the phrase, "I cannot even imagine..." but hope to give a glimpse of what this is like...and to reassure you that it is not all bad, despite the challenges.

Monday, March 24, 2014

It is a great time to be a mutant (if you have to be a mutant)

I was driving Brent in to the hospital on Thursday afternoon. It was the last day of school before Spring Break and Brent was going to get his drain out, which was most welcomed. After telling me all about his day, Brent asked about mine.

"What did you do today, mom?"

Well, among other things, I had watched a webinar about metastatic melanoma. There is a researcher out of MSKCC that has grabbed my attention in the round about way that my life works. When a webinar featuring Dr. Jedd Wolchok was posted on my news feed, I registered.

I suspect that stay-at-home moms were not the target audience, given how science-y it all was, but I found this thing to be absolutely riveting. There are promising things in immunotherapy, specifically with regard to melanoma, but these ideas can be applied to other forms of cancer as well. I am very encouraged.

In sharing some of the things that I learned with Brent, I spoke to him about how much has changed, even since I first learned about Li-Fraumeni Syndrome, just ten years ago when Lauren was diagnosed with adrenal cancer.

Ten years ago, they were just starting to test families who they suspected had Li-Fraumeni, for a p53 mutation, in order to identify which family members were effected. Prior to that, parents could only wonder and worry that they had passed this cancer predisposition to their children. I would still be worrying about Alex and Olivia, had the genetic testing not proven them to be genetically sound at P53. They have the same cancer defense as everyone else. This scientific advancement has directly benefitted our family, eliminating half of our worry.

But even five years ago, if you did the testing, there was nothing to be done with the information for people with a positive result for the mutation. Brent was diagnosed with osteosarcoma in the fall of 2011, right after the Toronto screening protocol was picked up. By using this screening guide, we began the proactive hunt for cancer, finding Lauren's brain tumor early, before it caused her bigger problems.

This same protocol picked up Brent's current cancer, melanoma, long before we would have suspected that he had a problem. While I am not happy about the fact that we are on our fourth pediatric cancer, or the fact that Brent has a year long treatment, I must to concede that the screening protocol is in fact working. We are picking these cancers up in the earlier and more treatable stages.

I shared with Brent about a study that they are doing at the National Institute of Health, which is trying to determine if using an existing drug, used off label, will help prevent cancers from developing in the first place. I am going to meet with the researcher next week to talk about this.

The research keeps moving. At first they simply identified families with likely genetic predisposition. Then they identified the gene that was mutated in all affected family members. They are now trying to get ahead of the cancer, by screening for it. The current research seeks to prevent cancer from happening to begin with.

Brent asked if this progression was like the diseases that were deadly 80 years ago, but we have vaccinations for now. If you were to get diphtheria back then, you might die. But now, people do not get often get diphtheria, because of vaccines. And if you do get it, it is much more treatable with antibiotics. I am hopeful about this notion, and hopeful that we are on the very edge of similar advances in cancer.

I told Brent that when he was first diagnosed with osteosarcoma, I was overwhelmed and afraid.

"I was afraid too, mom." This is the first time he has said such a thing to me. "But it is a great time to be a mutant... if you have to be a mutant."

I like his optimism, especially at times when mine falters. We move forward...always forward.

1 comment:

Hi Ann,This was a beautiful post. I've been following your blog even before we met at the LFS conference, and each post touches my heart so deeply. I was heartbroken to hear about Brent's melanoma, and I think of and pray for you guys every day. Please keep posting, and thank you for sharing so openly and honestly.Sending love and healing,From another "mutant" , Marjie

About Me

Our pediatric cancer adventure was complicated by the discovery of a genetic mutation (Li-Fraumeni Syndrome) which predisposes two of my children to all forms of cancer. While Brent, now 16, battled osteosarcoma (bone cancer), we found that Lauren, now 13, had a rare brain tumor. Since our initial problems in 2011, Brent developed two subsequent cancers (Metastatic melanoma and AML--a leukemia that required bone marrow transplant) and Lauren had a second brain tumor removed.

I share both the challenges and the blessings of this life, pretty freely.